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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 7-24702804-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=24702804&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 24702804,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000645220.1",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSDME",
"gene_hgnc_id": 2810,
"hgvs_c": "c.1213G>A",
"hgvs_p": "p.Gly405Ser",
"transcript": "NM_001127453.2",
"protein_id": "NP_001120925.1",
"transcript_support_level": null,
"aa_start": 405,
"aa_end": null,
"aa_length": 496,
"cds_start": 1213,
"cds_end": null,
"cds_length": 1491,
"cdna_start": 1301,
"cdna_end": null,
"cdna_length": 2250,
"mane_select": "ENST00000645220.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSDME",
"gene_hgnc_id": 2810,
"hgvs_c": "c.1213G>A",
"hgvs_p": "p.Gly405Ser",
"transcript": "ENST00000645220.1",
"protein_id": "ENSP00000494186.1",
"transcript_support_level": null,
"aa_start": 405,
"aa_end": null,
"aa_length": 496,
"cds_start": 1213,
"cds_end": null,
"cds_length": 1491,
"cdna_start": 1301,
"cdna_end": null,
"cdna_length": 2250,
"mane_select": "NM_001127453.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSDME",
"gene_hgnc_id": 2810,
"hgvs_c": "c.1213G>A",
"hgvs_p": "p.Gly405Ser",
"transcript": "ENST00000342947.9",
"protein_id": "ENSP00000339587.3",
"transcript_support_level": 1,
"aa_start": 405,
"aa_end": null,
"aa_length": 496,
"cds_start": 1213,
"cds_end": null,
"cds_length": 1491,
"cdna_start": 1465,
"cdna_end": null,
"cdna_length": 2414,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSDME",
"gene_hgnc_id": 2810,
"hgvs_c": "c.721G>A",
"hgvs_p": "p.Gly241Ser",
"transcript": "ENST00000419307.6",
"protein_id": "ENSP00000401332.1",
"transcript_support_level": 1,
"aa_start": 241,
"aa_end": null,
"aa_length": 332,
"cds_start": 721,
"cds_end": null,
"cds_length": 999,
"cdna_start": 1236,
"cdna_end": null,
"cdna_length": 2049,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSDME",
"gene_hgnc_id": 2810,
"hgvs_c": "n.3234G>A",
"hgvs_p": null,
"transcript": "ENST00000479636.1",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4182,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSDME",
"gene_hgnc_id": 2810,
"hgvs_c": "c.1213G>A",
"hgvs_p": "p.Gly405Ser",
"transcript": "NM_004403.3",
"protein_id": "NP_004394.1",
"transcript_support_level": null,
"aa_start": 405,
"aa_end": null,
"aa_length": 496,
"cds_start": 1213,
"cds_end": null,
"cds_length": 1491,
"cdna_start": 1465,
"cdna_end": null,
"cdna_length": 2414,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSDME",
"gene_hgnc_id": 2810,
"hgvs_c": "c.721G>A",
"hgvs_p": "p.Gly241Ser",
"transcript": "NM_001127454.2",
"protein_id": "NP_001120926.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 332,
"cds_start": 721,
"cds_end": null,
"cds_length": 999,
"cdna_start": 1235,
"cdna_end": null,
"cdna_length": 2184,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSDME",
"gene_hgnc_id": 2810,
"hgvs_c": "c.721G>A",
"hgvs_p": "p.Gly241Ser",
"transcript": "NM_001438059.1",
"protein_id": "NP_001424988.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 332,
"cds_start": 721,
"cds_end": null,
"cds_length": 999,
"cdna_start": 1071,
"cdna_end": null,
"cdna_length": 2020,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSDME",
"gene_hgnc_id": 2810,
"hgvs_c": "c.721G>A",
"hgvs_p": "p.Gly241Ser",
"transcript": "ENST00000409970.6",
"protein_id": "ENSP00000387119.1",
"transcript_support_level": 5,
"aa_start": 241,
"aa_end": null,
"aa_length": 332,
"cds_start": 721,
"cds_end": null,
"cds_length": 999,
"cdna_start": 1082,
"cdna_end": null,
"cdna_length": 1997,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSDME",
"gene_hgnc_id": 2810,
"hgvs_c": "c.73G>A",
"hgvs_p": "p.Gly25Ser",
"transcript": "ENST00000430096.1",
"protein_id": "ENSP00000395540.1",
"transcript_support_level": 3,
"aa_start": 25,
"aa_end": null,
"aa_length": 55,
"cds_start": 73,
"cds_end": null,
"cds_length": 168,
"cdna_start": 73,
"cdna_end": null,
"cdna_length": 450,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSDME",
"gene_hgnc_id": 2810,
"hgvs_c": "c.1213G>A",
"hgvs_p": "p.Gly405Ser",
"transcript": "XM_024446670.2",
"protein_id": "XP_024302438.1",
"transcript_support_level": null,
"aa_start": 405,
"aa_end": null,
"aa_length": 496,
"cds_start": 1213,
"cds_end": null,
"cds_length": 1491,
"cdna_start": 2116,
"cdna_end": null,
"cdna_length": 3065,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "GSDME",
"gene_hgnc_id": 2810,
"dbsnp": "rs566450742",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.33131080865859985,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.11,
"revel_prediction": "Benign",
"alphamissense_score": 0.2009,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.49,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.769,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000645220.1",
"gene_symbol": "GSDME",
"hgnc_id": 2810,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1213G>A",
"hgvs_p": "p.Gly405Ser"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}